Translational benefits from research on rare genodermatoses

Australasian Journal of Dermatology

Volumn 45, Issue 2, 2004, Pages 89-93

  McGrath, John A ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Gene mutation; Genetic skin disease; Kindler syndrome; Laryngo onychocutaneous syndrome; Lichen sclerosus; Lipoid proteinosis

Indexed keywords

ACTIN; EXTRACELLULAR MATRIX PROTEIN 1; KALININ; KINDLIN 1; PROTEIN; SCLEROPROTEIN; UNCLASSIFIED DRUG;

CYTOSKELETON; DIAGNOSTIC ACCURACY; DNA DETERMINATION; GENE MUTATION; GENE THERAPY; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; GENODERMATOSIS; GENOME; GRANULATION TISSUE; HETEROZYGOTE; HUMAN; KINDLER SYNDROME; LARYNGOONYCHOCUTANEOUS SYNDROME; LICHEN SCLEROSUS ET ATROPHICUS; LIPOID PROTEINOSIS; PHOTOSENSITIVITY DISORDER; POIKILODERMA; PRENATAL DIAGNOSIS; RARE DISEASE; REVIEW; SKIN DISEASE; SOMATIC CELL GENETICS; SOMATIC GENE THERAPY; SYNDROME DELINEATION;

DATABASES, NUCLEIC ACID; GENE THERAPY; GENETIC SCREENING; GENOME, HUMAN; HUMANS; MUTATION; SKIN DISEASES, GENETIC;

EID: 2342667496     PISSN: 00048380     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2004.00070.x     Document Type: Review

References (39)

1. Seeburg PH, Shine J, Martial JA, Ullrich A, Baxter JD, Goodman HM. Nucleotide sequence of part of the gene for human chorionic somatomammotropin: purification of DNA complementary to predominant mRNA species. Cell 1977; 12: 157-65.
2. Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG et al. The sequence of the human genome. Science 2001; 291: 1304-51.
3. Bleck O, McGrath JA, South AP. Searching for candidate genes in the new millennium. Clin. Exp. Dermatol. 2001; 26: 279-83.
4. Antonarakis SE, McKusick VA. OMIM passes the 1,000-disease-gene mark. Nat. Genet. 2000; 25: 11.
5. Irvine AD, McLean WH. The molecular genetics of the genodermatoses: progress to date and future directions. Br. J. Dermatol. 2003; 148: 1-13.
6. McGrath JA. Gene mutations, great expectations. Clin. Dermatol. 2001; 19: 59-64.
7. Pai S, Marinkovich MP. Epidermolysis bullosa: new and emerging trends. Am. J. Clin. Dermatol. 2002; 3: 371-80.
8. Uitto J, Pulkkinen L. Molecular genetics of heritable blistering disorders. Arch. Dermatol. 2001; 137: 1458-61.
9. Smith F. The molecular genetics of keratin disorders. Am. J. Clin. Dermatol. 2003; 4: 347-64.
10. Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat. Diagn. 2003; 23: 447-56.
11. Braude P, Pickering S, Flinter F, Ogilvie CM. Preimplantation genetic diagnosis. Nat. Rev. Genet. 2002; 3: 941-53.
12. Khavari PA, Rollman O, Vahlquist A. Cutaneous gene transfer for skin and systemic diseases. J. Intern. Med. 2002; 252: 1-10.
13. Mecklenbeck S, Compton SH, Mejia JE, Cervini R, Hovnanian A, Bruckner-Tuderman L, Barrandon Y. A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line. Hum. Gene Ther. 2002; 13: 1655-62.
14. Chen M, Kasahara N, Keene DR, Chan L, Hoeffler WK, Finlay D, Barcova M, Cannon PM, Mazurek C, Woodley DT. Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Nat. Genet. 2002; 32: 670-5.
15. Ortiz-Urda S, Thyagarajan B, Keene DR, Lin Q, Fang M, Calos MP, Khavari PA. Stable nonviral genetic correction of inherited human skin disease. Nat. Med. 2002; 8: 1166-70.
16. Bauer JW, Lanschuetzer C. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin. Exp. Dermatol. 2003; 28: 53-60.
17. Ortiz-Urda S, Thyagarajan B, Keene DR, Lin Q, Calos MP, Khavari PA. PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. Hum. Gene Ther. 2003; 14: 923-8.
18. Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, Elomaa O et al. Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum. Mol. Genet. 2002; 11: 589-97.
19. Veal CD, Capon F, Allen MH, Heath EK, Evans JC, Jones A et al. Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus. Am. J. Hum. Genet. 2002; 71: 554-64.
20. Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat. Genet. 2003; 34: 151-3.
21. McLeod HL, Siva C. The thiopurine S-methyltransferase gene locus - implications for clinical pharmacogenomics. Pharmacogenomics 2002; 3: 89-98.
22. Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br. J. Dermatol. 1954; 66: 104-11.
23. Salamon T, Bogdanovic B, Lazovic O. On a case of Thomson's syndrome and epidermolysis bullosa dystrophica-like skin changes. Arch. Klin. Exp. Dermatol. 1966; 225: 194-206.
24. Lotem M, Raben M, Zeltser R, Landau M, Sela M, Wygoda M, Tochner ZA. Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor. Br. J. Dermatol. 2001; 144: 1284-6.
25. Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum. Mol. Genet. 2003; 12: 925-35.
26. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler KC, Wilhelmsen KC et al. Loss of kindlin-1, a homolog of the Caenorhabditis elegans actin-extracellular matrix linker protein UNC-112, causes Kindler syndrome. Am. J. Hum. Genet. 2003; 73: 174-87.
27. Chishti AH, Kim AC, Marfatia SM, Lutchman M, Hanspal M, Jindal H et al. The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem. Sci. 1998; 23: 281-2.
28. Lemmon MA, Ferguson KM, Abrams CS. Pleckstrin homology domains and the cytoskeleton. FEBS Lett. 2002; 513: 71-6.
29. Civatte A. Poikilodermie reticulee pigmentaire du visage et du cou. Ann. Dermatol. Syphilol. 1923; 6: 605-20. (In French, no abstract in English.)
30. Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows Arch. A. Pathol. Pathol. Anat. 1929; 273: 285-319. (In German, no abstract in English.)
31. Hamada T. Lipoid proteinosis. Clin. Exp. Dermatol. 2002; 27: 624-9.
32. Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECMI). Hum. Mol. Genet. 2002; 11: 833-40.
33. Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N et al. Extracellular matrix protein 1 gene (ECMI) mutations in lipoid proteinosis and genotype-phenotype correlation. J. Invest. Dermatol. 2003; 120: 345-50.
34. Mongiat M, Fu J, Oldershaw R, Greenhalgh R, Gown AM, Iozzo RV. Perlecan protein core domain interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis. J. Biol. Chem. 2003; 278: 17491-9.
35. Oyama N, Chan 1, Neill SM, Hamada T, South AP, Wessagowit V et al. Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet 2003; 362: 118-23.
36. Shabbir G, Hassan M, Kazmi A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 1986; 2: 15-25.
37. Phillips RJ, Atherton DJ, Gibbs ML, Strobel S, Lake BD. Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect. Arch. Dis. Child. 1994; 70: 319-26.
38. McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman CM, Mellerio JE et al. An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum. Mol. Genet. 2003; 12: 2395-409.
39. O'Toole EA. Extracellular matrix and keratinocyte migration. Clin. Exp. Dermatol. 2001; 26: 525-30.